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1
Central adrenal insufficiency: who, when, and how? From the evidence to the controversies – an exploratory review
Central adrenal insufficiency: who, when, and how? From the evidence to the controversies – an exploratory review
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Central adrenal insufficiency: who, when, and how? From the evidence to the controversies – an exploratory review

Bitencourt, Mariana Rechia ; Batista, Rafael Loch ; Biscotto, Isabela ; Carvalho, Luciani R.

Archives of Endocrinology and Metabolism, 2022-07, Vol.66 (4), p.541-550

Sociedade Brasileira de Endocrinologia e Metabologia

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2
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery
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Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery

Correa, Fernanda A. ; Nakaguma, Marilena ; Madeira, João L. O. ; Nishi, Mirian Y. ; Abrão, Milena G. ; Jorge, Alexander A. L. ; Carvalho, Luciani R. ; Arnhold, Ivo J. P. ; Mendonça, Berenice B.

Archives of Endocrinology and Metabolism, 2019-05, Vol.63 (2), p.167-174

Sociedade Brasileira de Endocrinologia e Metabologia

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3
Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum
Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum
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Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum

Nakaguma, Marilena ; Ferreira, Nathalia Garcia Bianchi Pereira ; Benedetti, Anna Flavia Figueredo ; Madi, Mariana Cotarelli ; Silva, Juliana Moreira ; Li, Jun Z ; Ma, Qianyi ; Bilge Ozel, Ayse ; Fang, Qing ; Narcizo, Amanda de Moraes ; Cardoso, Laís Cavalca ; Montenegro, Luciana Ribeiro ; Funari, Mariana Ferreira de Assis ; Nishi, Mirian Yumie ; Arnhold, Ivo Jorge Prado ; Jorge, Alexander Augusto de Lima ; Mendonca, Berenice Bilharinho de ; Camper, Sally Ann ; Carvalho, Luciani R

Genes, 2021-07, Vol.12 (8), p.1128 [Periódico revisado por pares]

Switzerland: MDPI AG

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4
Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders
Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders
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Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders

Ferreira, Nathalia G B P ; Madeira, Joao L O ; Gergics, Peter ; Kertsz, Renata ; Marques, Juliana M ; Trigueiro, Nicholas S S ; Benedetti, Anna Flavia Figueredo ; Azevedo, Bruna V ; Fernandes, Bianca H V ; Bissegatto, Debora D ; Biscotto, Isabela P ; Fang, Qing ; Ma, Qianyi ; Ozel, Asye B ; Li, Jun ; Camper, Sally A ; Jorge, Alexander A L ; Mendonça, Berenice B ; Arnhold, Ivo J P ; Carvalho, Luciani R

Endocrine Connections, 2023-07, Vol.12 (8), p.1-12 [Periódico revisado por pares]

England: Bioscientifica Ltd

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5
An activating mutation in the CRHR1 gene is rarely associated with pituitary-dependent hyperadrenocorticism in poodles
An activating mutation in the CRHR1 gene is rarely associated with pituitary-dependent hyperadrenocorticism in poodles
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An activating mutation in the CRHR1 gene is rarely associated with pituitary-dependent hyperadrenocorticism in poodles

De-Marco, Viviani ; Carvalho, Luciani R. ; Guzzo, Mariana F. ; Oliveira, Paulo S.L. ; Gomes, Larissa G. ; Mendonca, Berenice B.

Clinics (São Paulo, Brazil), 2017-10, Vol.72 (9), p.575-581 [Periódico revisado por pares]

Brazil: Elsevier España, S.L.U

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6
Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing
Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing
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Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing

Correa, Fernanda A. ; França, Marcela M. ; Fang, Qing ; Ma, Qianyi ; Bachega, Tania A. ; Rodrigues, Andresa ; Ozel, Bilge A. ; Li, Jun Z. ; Mendonca, Berenice B. ; Jorge, Alexander A. L. ; Carvalho, Luciani R. ; Camper, Sally A. ; Arnhold, Ivo J. P

Archives of Endocrinology and Metabolism, 2017-12, Vol.61 (6), p.633-636

Brazilian Society of Endocrinology and Metabolism

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7
PROP1 and CTNNB1 expression in adamantinomatous craniopharyngiomas with or without β-catenin mutations
PROP1 and CTNNB1 expression in adamantinomatous craniopharyngiomas with or without β-catenin mutations
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PROP1 and CTNNB1 expression in adamantinomatous craniopharyngiomas with or without β-catenin mutations

Cani, Carolina M.G. ; Matushita, Hamilton ; Carvalho, Luciani R.S. ; Soares, Ibere C. ; Brito, Luciana P. ; Almeida, Madson Q. ; Mendonça, Berenice B.

Clinics (São Paulo, Brazil), 2011-01, Vol.66 (11), p.1849-1854 [Periódico revisado por pares]

Brazil: Elsevier España, S.L.U

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8
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR
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Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR

Nakaguma, Marilena ; Correa, Fernanda A ; Santana, Lucas S ; Benedetti, Anna F F ; Perez, Ricardo V ; Huayllas, Martha K P ; Miras, Mirta B ; Funari, Mariana F A ; Lerario, Antonio M ; Mendonca, Berenice B ; Carvalho, Luciani R S ; Jorge, Alexander A L ; Arnhold, Ivo J P

Endocrine Connections, 2019-05, Vol.8 (5), p.590-595 [Periódico revisado por pares]

England: Bioscientifica Ltd

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9
PROP1 overexpression in corticotrophinomas: evidence for the role of PROP1 in the maintenance of cells committed to corticotrophic differentiation
PROP1 overexpression in corticotrophinomas: evidence for the role of PROP1 in the maintenance of cells committed to corticotrophic differentiation
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PROP1 overexpression in corticotrophinomas: evidence for the role of PROP1 in the maintenance of cells committed to corticotrophic differentiation

Araujo, Ricardo V ; Chang, Claudia V ; Cescato, Valter A.S. ; Fragoso, Maria Candida B.V. ; Bronstein, Marcello D ; Mendonca, Berenice B ; Arnhold, Ivo J.P. ; Carvalho, Luciani R S

Clinics (São Paulo, Brazil), 2013-06, Vol.68 (6), p.887-891 [Periódico revisado por pares]

Brazil: Elsevier España, S.L.U

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10
A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction
A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction
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A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction

Carvalho, Luciani R ; Woods, Kathryn S ; Mendonca, Berenice B ; Marcal, Nathalie ; Zamparini, Andrea L ; Stifani, Stefano ; Brickman, Joshua M ; Arnhold, Ivo J P ; Dattani, Mehul T

The Journal of clinical investigation, 2003-10, Vol.112 (8), p.1192-1201 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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